Search Results - "NEWBURY, Dianne F"

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment by Chen, Xiaowei Sylvia, Reader, Rose H., Hoischen, Alexander, Veltman, Joris A., Simpson, Nuala H., Francks, Clyde, Newbury, Dianne F., Fisher, Simon E.

“…A significant proportion of children have unexplained problems acquiring proficient linguistic skills despite adequate intelligence and opportunity…”
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A Functional Genetic Link between Distinct Developmental Language Disorders by Vernes, Sonja C, Newbury, Dianne F, Abrahams, Brett S, Winchester, Laura, Nicod, Jérôme, Groszer, Matthias, Alarcón, Maricela, Oliver, Peter L, Davies, Kay E, Geschwind, Daniel H, Monaco, Anthony P, Fisher, Simon E

“…This study shows an association between variants of CNTNAP2 and a diminished ability to repeat nonsense words, a behavioral marker of specific language…”
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Corrigendum: Genome-wide association study of motor coordination by Mountford, Hayley S, Hill, Amanda, Barnett, Anna L, Newbury, Dianne F

“…[This corrects the article DOI: 10.3389/fnhum.2021.669902.]…”
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Genome-Wide Association Study of Motor Coordination by Mountford, Hayley S, Hill, Amanda, Barnett, Anna L, Newbury, Dianne F

“…The ability to finely control our movement is key to achieving many of the educational milestones and life-skills we develop throughout our lives. Despite the…”
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The Genetic and Molecular Basis of Developmental Language Disorder: A Review by Mountford, Hayley S, Braden, Ruth, Newbury, Dianne F, Morgan, Angela T

“…Language disorders are highly heritable and are influenced by complex interactions between genetic and environmental factors. Despite more than twenty years of…”
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Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment by Villanueva, Pía, Nudel, Ron, Hoischen, Alexander, Fernández, María Angélica, Simpson, Nuala H, Gilissen, Christian, Reader, Rose H, Jara, Lillian, Echeverry, María Magdalena, Echeverry, Maria Magdalena, Francks, Clyde, Baird, Gillian, Conti-Ramsden, Gina, O'Hare, Anne, Bolton, Patrick F, Hennessy, Elizabeth R, Palomino, Hernán, Carvajal-Carmona, Luis, Veltman, Joris A, Cazier, Jean-Baptiste, De Barbieri, Zulema, Fisher, Simon E, Newbury, Dianne F

“…Children affected by Specific Language Impairment (SLI) fail to acquire age appropriate language skills despite adequate intelligence and opportunity. SLI is…”
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Copy Number Variation Screen Identifies a Rare De Novo Deletion at Chromosome 15q13.1-13.3 in a Child with Language Impairment by Pettigrew, Kerry A, Reeves, Emily, Leavett, Ruth, Hayiou-Thomas, Marianna E, Sharma, Anahita, Simpson, Nuala H, Martinelli, Angela, Thompson, Paul, Hulme, Charles, Snowling, Margaret J, Newbury, Dianne F, Paracchini, Silvia

“…A significant proportion of children (up to 7% in the UK) present with pronounced language difficulties that cannot be explained by obvious causes like other…”
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Candidate gene variant effects on language disorders in Robinson Crusoe Island by Mountford, Hayley S., Villanueva, Pía, Fernández, María Angélica, Barbieri, Zulema De, Cazier, Jean-Baptiste, Newbury, Dianne F.

“…Background: Robinson Crusoe Island is a geographically and socially isolated settlement located over 600 km west of the Port of Valparíso, Chile. An unusually…”
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The Genetic Population Structure of Robinson Crusoe Island, Chile by Mountford, Hayley S, Villanueva, Pía, Fernández, María Angélica, Jara, Lilian, De Barbieri, Zulema, Carvajal-Carmona, Luis G, Cazier, Jean-Baptiste, Newbury, Dianne F

“…Studies examining genetic conditions common in Latin America are highly underrepresented in the scientific literature. Understanding of the population…”
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Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways by Wilson, Kate, Newbury, Dianne F, Kini, Usha

“…Abstract Orofacial cleft (OC) is a common congenital anomaly in humans, which has lifelong implications for affected individuals. This disorder can be…”
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Stage 2 Registered Report: Variation in neurodevelopmental outcomes in children with sex chromosome trisomies: testing the double hit hypothesis by Newbury, Dianne F., Simpson, Nuala H., Thompson, Paul A., Bishop, Dorothy V. M.

“…Background : The presence of an extra sex chromosome is associated with an increased rate of neurodevelopmental difficulties involving language. The 'double…”
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The dyslexia candidate locus on 2p12 is associated with general cognitive ability and white matter structure by Scerri, Thomas S, Darki, Fahimeh, Newbury, Dianne F, Whitehouse, Andrew J O, Peyrard-Janvid, Myriam, Matsson, Hans, Ang, Qi W, Pennell, Craig E, Ring, Susan, Stein, John, Morris, Andrew P, Monaco, Anthony P, Kere, Juha, Talcott, Joel B, Klingberg, Torkel, Paracchini, Silvia

“…Independent studies have shown that candidate genes for dyslexia and specific language impairment (SLI) impact upon reading/language-specific traits in the…”
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Stage 2 Registered Report: Variation in neurodevelopmental outcomes in children with sex chromosome trisomies: testing the double hit hypothesis by Newbury, Dianne F., Simpson, Nuala H., Thompson, Paul A., Bishop, Dorothy V. M.

“…Background : The presence of an extra sex chromosome is associated with an increased rate of neurodevelopmental difficulties involving language. The 'double…”
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Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes by Pettigrew, Kerry A, Frinton, Emily, Nudel, Ron, Chan, May T M, Thompson, Paul, Hayiou-Thomas, Marianna E, Talcott, Joel B, Stein, John, Monaco, Anthony P, Hulme, Charles, Snowling, Margaret J, Newbury, Dianne F, Paracchini, Silvia

“…Specific language impairment (SLI) is a common neurodevelopmental disorder, observed in 5-10 % of children. Family and twin studies suggest a strong genetic…”
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Generalized Structured Component Analysis in candidate gene association studies: applications and limitations by Thompson, Paul A., Bishop, Dorothy V. M., Eising, Else, Fisher, Simon E., Newbury, Dianne F.

“…Background: Generalized Structured Component Analysis (GSCA) is a component-based alternative to traditional covariance-based structural equation modelling…”
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The Development of Mental Health Difficulties in Young People with and without Developmental Language Disorder: A Gene-Environment Interplay Study Using Polygenic Scores by Toseeb, Umar, Vincent, John, Oginni, Olakunle A, Asbury, Kathryn, Newbury, Dianne F

“…Purpose: Young people with developmental language disorder (DLD) have poorer mental health than those without DLD. However, not all young people with DLD are…”
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Stage 2 Registered Report: Variation in neurodevelopmental outcomes in children with sex chromosome trisomies: testing the double hit hypothesis by Newbury, Dianne F, Simpson, Nuala H, Thompson, Paul A, Bishop, Dorothy V M

“…: The presence of an extra sex chromosome is associated with an increased rate of neurodevelopmental difficulties involving language. The 'double hit'…”
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Unraveling the molecular interactions between α7 nicotinic receptor and a RIC3 variant associated with backward speech by Pradhan, Aditi, Mounford, Hayley, Peixinho, Jessica, Rea, Edward, Epeslidou, Emmanouela, Scott, Julia S., Cull, Joanna, Maxwell, Susan, Webster, Richard, Beeson, David, Dong, Yin Yao, Prekovic, Stefan, Bermudez, Isabel, Newbury, Dianne F.

“…Recent work putatively linked a rare genetic variant of the chaperone Resistant to Inhibitors of acetylcholinesterase ( RIC3 ) (NM_024557.4:c.262G > A,…”
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Using Polygenic Profiles to Predict Variation in Language and Psychosocial Outcomes in Early and Middle Childhood by Newbury, Dianne F, Gibson, Jenny L, Conti-Ramsden, Gina, Pickles, Andrew, Durkin, Kevin, Toseeb, Umar

“…Purpose: Children with poor language tend to have worse psychosocial outcomes compared to their typically developing peers. The most common explanations for…”
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Stage 1 Registered Report: Variation in neurodevelopmental outcomes in children with sex chromosome trisomies: protocol for a test of the double hit hypothesis by Newbury, Dianne F, Simpson, Nuala H, Thompson, Paul A, Bishop, Dorothy V M

“…: The presence of an extra sex chromosome is associated with an increased rate of neurodevelopmental difficulties involving language. Group averages, however,…”
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